Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses

Bonneau, Dominique; Maréchaud, M; Odent, Sylvie; Piegay, Isabelle; Godard, Alain; Amati, Patrizia

doi:10.1002/(sici)1096-8628(19990604)84:4<373::aid-ajmg13>3.0.co;2-8

Cited by 13 publications

(7 citation statements)

References 19 publications

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“…Neurologic abnormalities are known to be part of heterotaxy, although the associations are not completely understood. Agenesis of the corpus callosum, holoprosencephaly, myelomeningocele, and neural tube defects have been reported [ 45 - 46 ]. Such associations were also found in the mouse model of heterotaxy [ 47 ].…”

Section: Reviewmentioning

confidence: 99%

Radiologic Considerations in Heterotaxy: The Need for Detailed Anatomic Evaluation

Loomba

Shah

Anderson

et al. 2016

Cureus

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So-called “heterotaxy” is a laterality defect characterized by isomerism of the thoracic organs and random arrangement of the abdominal organs. These findings go beyond anatomic curiosity and have functional implications. It is, thus, of the utmost importance to be able to properly identify these findings.Radiologic studies can be invaluable in determining anomalies in the central nervous, pulmonary, cardiovascular, gastrointestinal, genitourinary, and immunologic systems in patients with isomerism. Here, we review findings associated with isomerism and their importance in the setting of isomerism with the aim of ensuring that radiologists effectively describe findings in these patients and that cardiologists understand the wide variety of congenital malformations that may be present.

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Section: Reviewmentioning

confidence: 99%

Radiologic Considerations in Heterotaxy: The Need for Detailed Anatomic Evaluation

Loomba

Shah

Anderson

et al. 2016

Cureus

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“…The association between holoprosencephaly microforms and situs inversus has been described previously (30), indicating that the same gene may be responsible for heterotaxy and midline defects. None of the reported patients with such an association have circumferential skin folds.…”

Section: Discussionmentioning

confidence: 55%

New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies

Basel‐Vanagaite

Sprecher

Gat

et al. 2011

Pediatric Dermatology

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Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. Examination of the patient revealed symmetrical congenital circumferential skin folds and dysmorphic features, as well as multiple congenital anomalies including nasal pyriform aperture stenosis, ventricular septal defect, absent spleen, camptodactyly, and severe psychomotor retardation. Skin biopsy demonstrated subcutaneous fat extending into the superficial and deep reticular dermis. Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations. Extensive review of previously described cases of syndromic congenital circumferential skin folds did not reveal a similar combination of clinical and histopathological findings.

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“…Congenital absence of the spleen is usually accompanied by complex cardiac malformations, malposition and maldevelopment of the abdominal organs, and abnormal lobation of the lungs and configures the Ivemark syndrome in which an autosomal recessive inheritance was supposed. Moreover, Bonneau et al 5 reported two sib fetuses, products of a consanguineous union, who had multiple and apparently unrelated malformations. The first fetus, a female, had trilobed lungs, a single cardiac ventricle, asplenia, situs ambiguus of the liver, and a lumbosacral meningomyelocele.…”

Section: Discussionmentioning

confidence: 99%

Craniorachischisis and Heterotaxia with Heart Disease in Twins: Link or Change Nature?

Bianca

Bartoloni

Barone

et al. 2010

Congenital Heart Disease

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Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development and is characterized by a variable group of congenital anomalies that include complex cardiac malformations and situs inversus or situs ambiguous. We report a diamniotic twin pregnancy with two malformed fetuses affected one by craniorachischisis and the other by heterotaxya with paired right-sided viscera, asplenia, and complex congenital heart disease. The occurrence of severe congenital anomalies in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different phenotypes observed in our twins is unknown. Our case with the simultaneous presence of both midline and laterality defects in twins supports the hypothesis that the midline plays a critical role in establishing left-right asymmetry in the body and that a mutation in a gene responsible for both heterotaxy and midline defects may be strongly supposed.

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Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses

Cited by 13 publications

References 19 publications

Radiologic Considerations in Heterotaxy: The Need for Detailed Anatomic Evaluation

Radiologic Considerations in Heterotaxy: The Need for Detailed Anatomic Evaluation

New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies

Craniorachischisis and Heterotaxia with Heart Disease in Twins: Link or Change Nature?

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